A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731478



Internal ID10315114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2907420..2908164hg38UCSC Ensembl
Outerchr6:2907654..2908398hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860693, essv6687160, essv6802490, essv6751513, essv6956845, essv6687159
SamplesSSM073, SSM088, SSM057, SSM026, SSM035
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731478
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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